Mutation Details for c.178G>T
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cDNA Name
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c.178G>T
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Protein Name
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p.Glu60X
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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E60X
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Other Details
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This mutation was detected by direct DNA sequencing and is a single base change from a G to a T at the beginning of codon 60. This changes the codon from GAG (glutamic acid) to TAG (termination codon). The mutation was seen in a girl whose other CF chromosome carries the [delta]F508 mutation. The patient presented with meconium ileus, had a sweat sodium concentration of 86meq/I and died at the age of 7 years. The E60X mutation was seen on a chromosome with the 'A' haplotype i.e. XV2c type 1 and KM19 type 1.
Although we have only seen this mutation once so far, we believe that the conversion from glutamic acid residue to a stop codon is suggestive of a CF mutation.
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Contributors
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Malone G,
Schwarz M,
Super M
1991-11-22
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Institute
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Royal Manchester Children's Hospital
Pendlebury, UK
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Phenotype Information
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CFTR2
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Reference
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Malone et al. (NL#40)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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